دورية أكاديمية
أعرض في EDS

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.

التفاصيل البيبلوغرافية
العنوان: A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
المؤلفون: Myasnikov RP; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Kulikova OV; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Meshkov AN; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Bukaeva AA; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Kiseleva AV; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Ershova AI; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Petukhova AV; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Divashuk MG; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia., Zotova ED; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Sotnikova EA; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Abisheva AA; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Muraveva AV; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Koretskiy SN; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia., Popov SV; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Utkina MV; FSBI 'National Medical Research Center of Endocrinology' of the Ministry of Health of Russia, 115478 Moscow, Russia., Snigir EA; Federal State Budgetary Institution 'Centre for Strategic Planning and Management of Biomedical Health Risks' of the Federal Medical Biological Agency, 119121 Moscow, Russia., Mitrofanov SI; Federal State Budgetary Institution 'Centre for Strategic Planning and Management of Biomedical Health Risks' of the Federal Medical Biological Agency, 119121 Moscow, Russia., Konureeva KD; Federal State Budgetary Institution 'Centre for Strategic Planning and Management of Biomedical Health Risks' of the Federal Medical Biological Agency, 119121 Moscow, Russia., Mershina EA; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Sinitsyn VE; Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia., Yudin SM; Federal State Budgetary Institution 'Centre for Strategic Planning and Management of Biomedical Health Risks' of the Federal Medical Biological Agency, 119121 Moscow, Russia., Drapkina OM; National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.
المصدر: Genes [Genes (Basel)] 2022 Sep 28; Vol. 13 (10). Date of Electronic Publication: 2022 Sep 28.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Isolated Noncompaction of the Ventricular Myocardium*/genetics , Cardiomyopathies*, Humans ; Mutation ; Heart ; Mutation, Missense ; Myosin Heavy Chains/genetics ; Cardiac Myosins/genetics
مستخلص: Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of MYH7 -related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in MYH7 ( MYH7 tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders. However, recent large-scale studies demonstrated evidence of the significance of MYH7 tv for LVNC and gave rise to an assumption that haploinsufficiency may be the causal mechanism for LVNC. In this article, we present a family with isolated LVNC and a heterozygous splice variant of the MYH7 gene, analyze possible consequences of this variant and conclude that not all variants that are predicted truncating really act through haploinsufficiency. This study can highlight the importance of a precise assessment of MYH7 splicing variants and their participation in the development of LVNC.
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فهرسة مساهمة: Keywords: MYH7; genetic testing; left ventricular noncompaction; splicing
المشرفين على المادة: 0 (MYH7 protein, human)
EC 3.6.4.1 (Myosin Heavy Chains)
EC 3.6.1.- (Cardiac Myosins)
تواريخ الأحداث: Date Created: 20221027 Date Completed: 20221028 Latest Revision: 20221222
رمز التحديث: 20221222
مُعرف محوري في PubMed: PMC9602094
DOI: 10.3390/genes13101750
PMID: 36292635
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes13101750